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欧洲儿童肝豆状核变性诊疗推荐意见简介

2018-07-20 实用肝脏病杂志.2018,21(4):502-504.

肝豆状核变性

肝豆状核变性（Wilson’s disease, WD）是常染色隐性遗传相关的铜代谢障碍性疾病，估计患病率为1：30000。该病是由于编码P 型ATP酶的ATP7B基因突变，影响铜的分泌及排泄所致铜沉积。儿童肝豆状核变性的临床表现可以从无症状肝脏疾病到肝硬化或者肝衰竭，但是神经精神症状却非常少见。常规的检测方法包括血清铜蓝蛋白、24 h尿铜。最终的诊断需要基于症状、评估铜代谢的生化学检查和ATP7

中文标题：

欧洲儿童肝豆状核变性诊疗推荐意见简介

发布机构：

发布日期：

2018-07-20

简要介绍：

肝豆状核变性（Wilson’s disease, WD）是常染色隐性遗传相关的铜代谢障碍性疾病，估计患病率为1：30000。该病是由于编码P 型ATP酶的ATP7B基因突变，影响铜的分泌及排泄所致铜沉积。儿童肝豆状核变性的临床表现可以从无症状肝脏疾病到肝硬化或者肝衰竭，但是神经精神症状却非常少见。常规的检测方法包括血清铜蓝蛋白、24 h尿铜。最终的诊断需要基于症状、评估铜代谢的生化学检查和ATP7B基因突变的诊断评分系统。该病的治疗需要药物终身治疗，可以使用螯合剂青酶胺或者曲恩汀减少体内过多的铜或者锌剂减少肠道铜的吸收。急性肝衰竭患者常常需要肝移植。儿童时期WD的诊断非常困难，经常是无症状的，成人推荐的标准可能不适合。因此，欧洲儿童胃肠病、肝病及营养学会（ESPGHAN）推出这篇文章，目的是为儿童肝豆状核变性的诊断、治疗及随访提供推荐意见。 

作者： 交通大学医学院附属新华医院消化内科 曹海霞 范建高

拓展指南：与儿童相关指南：

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    2022-08-27 循证小兵

    #肝豆状核变性#

    0

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    2018-07-26 txqjm

    谢谢了，学习

    0

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    2018-07-25 liumin1987

    儿童肝豆状核变性诊疗意见。

    0

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    2018-07-25 龙胆草

    学习谢谢分享

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    2018-07-25 神功盖世

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